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- B740619ae397d6195f927dac322c6277b hasDbXref "Orphanet:1373" @default.
- B740619ae397d6195f927dac322c6277b type Axiom @default.
- B740619ae397d6195f927dac322c6277b annotatedProperty IAO_0000115 @default.
- B740619ae397d6195f927dac322c6277b annotatedSource MONDO_0007277 @default.
- B740619ae397d6195f927dac322c6277b annotatedTarget "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." @default.